Canonical Allele Identifier: CA672592506

Gene: SORL1

Linked Data

• dbSNP Id: rs1409288900
• gnomAD v3: 11-121522358-C-CT
• gnomAD v4: 11-121522358-C-CT
• MyVariant Identifiers: chr11:g.121393067_121393068insT (hg19) ; chr11:g.121522358_121522359insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522363dup , CM000673.2:g.121522363dup	GRCh38
NC_000011.9:g.121393072dup , CM000673.1:g.121393072dup	GRCh37
NC_000011.8:g.120898282dup	NCBI36
NG_023313.1:g.75112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-223dup MANE Select	ENSP00000260197.6:n.1405-223dup
ENST00000260197.11:c.1405-223dup	ENSP00000260197.6:n.1405-223dup
ENST00000532451.1:n.1357-223dup
NM_003105.5:c.1405-223dup	NP_003096.1:n.1405-223dup
XM_011542963.1:c.1405-223dup	XP_011541265.1:n.1405-223dup
XM_011542964.1:c.1405-223dup	XP_011541266.1:n.1405-223dup
XM_011542965.1:c.-218-223dup	XP_011541267.1:n.-218-223dup
XM_011542963.3:c.1405-223dup	XP_011541265.1:n.1405-223dup
XM_011542965.3:c.-218-223dup	XP_011541267.1:n.-218-223dup
XM_017018169.2:c.1093-223dup	XP_016873658.1:n.1093-223dup
XM_017018170.2:c.880-223dup	XP_016873659.1:n.880-223dup
XM_017018171.1:c.1405-223dup	XP_016873660.1:n.1405-223dup
NM_003105.6:c.1405-223dup MANE Select	NP_003096.2:n.1405-223dup